TY  - JOUR
AU  - Hernández-Arévalo, Paula
AU  - Santotoribio, José D
AU  - Delarosa-Rodríguez, Rocío
AU  - González-Meneses, Antonio
AU  - García-Morillo, Salvador
AU  - Jiménez-Arriscado, Pilar
AU  - Guerrero, Juan M
AU  - Macher, Hada C
PY  - 2021
DO  - 10.1186/s13023-021-01864-8
UR  - http://hdl.handle.net/10668/17816
T2  - Orphanet journal of rare diseases
AB  - Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic variations and clinical...
LA  - en
KW  - Alpha-glucosidase enzyme
KW  - GAA gene
KW  - Genotype–phenotype correlation
KW  - Pompe disease
KW  - Adult
KW  - Female
KW  - Genetic Association Studies
KW  - Glycogen Storage Disease Type II
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Spain
KW  - alpha-Glucosidases
TI  - Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
TY  - research article
VL  - 16
ER  -